Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration

par Maltecca, Francesca, Magnoni, Raffaella, Cerri, Federica, Cox, Gregory A., Quattrini, Angelo, Casari, Giorgio
Publié dans J Neurosci (2009)

The WRB Subunit of the Get3 Receptor is Required for the Correct Integration of its Partner CAML into the ER

par Carvalho, Hugo J. F., Del Bondio, Andrea, Maltecca, Francesca, Colombo, Sara F., Borgese, Nica
Publié dans Sci Rep (2019)

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

par Maltecca, Francesca, De Stefani, Diego, Cassina, Laura, Consolato, Francesco, Wasilewski, Michal, Scorrano, Luca, Rizzuto, Rosario, Casari, Giorgio
Publié 2012

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

par Baderna, Valentina, Schultz, Joshua, Kearns, Lisa S., Fahey, Michael, Thompson, Bryony A., Ruddle, Jonathan B., Huq, Aamira, Maltecca, Francesca
Publié dans Acta Neuropathol Commun (2020)

Upregulation of Peroxiredoxin 3 Protects Afg3l2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions

par Bettegazzi, Barbara, Pelizzoni, Ilaria, Salerno Scarzella, Floramarida, Restelli, Lisa Michelle, Zacchetti, Daniele, Maltecca, Francesca, Casari, Giorgio, Grohovaz, Fabio, Codazzi, Franca
Publié dans Oxid Med Cell Longev (2019)

U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene

par Sferruzza, Giacomo, Del Bondio, Andrea, Citterio, Andrea, Vezzulli, Paolo, Guerrieri, Simone, Radaelli, Marta, Martinelli Boneschi, Filippo, Filippi, Massimo, Maltecca, Francesca, Bassi, Maria Teresa, Scarlato, Marina
Publié dans Neurol Genet (2021)

Purkinje neuron Ca(2+) influx reduction rescues ataxia in SCA28 model

par Maltecca, Francesca, Baseggio, Elisa, Consolato, Francesco, Mazza, Davide, Podini, Paola, Young, Samuel M., Drago, Ilaria, Bahr, Ben A., Puliti, Aldamaria, Codazzi, Franca, Quattrini, Angelo, Casari, Giorgio
Publié dans J Clin Invest (2014)

The Mitochondrial Protease AFG3L2 Is Essential for Axonal Development

par Maltecca, Francesca, Aghaie, Asadollah, Schroeder, David G., Cassina, Laura, Taylor, Benjamin A., Phillips, Sandra J., Malaguti, Mariachiara, Previtali, Stefano, Guénet, Jean-Louis, Quattrini, Angelo, Cox, Gregory A., Casari, Giorgio
Publié dans J Neurosci (2008)

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

par Tulli, Susanna, Del Bondio, Andrea, Baderna, Valentina, Mazza, Davide, Codazzi, Franca, Pierson, Tyler Mark, Ambrosi, Alessandro, Nolte, Dagmar, Goizet, Cyril, Toro, Camilo, Baets, Jonathan, Deconinck, Tine, DeJonghe, Peter, Mandich, Paola, Casari, Giorgio, Maltecca, Francesca
Publié dans J Med Genet (2019)

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

par Duncan, Emma J., Larivière, Roxanne, Bradshaw, Teisha Y., Longo, Fabiana, Sgarioto, Nicolas, Hayes, Matthew J., Romano, Lisa E.L., Nethisinghe, Suran, Giunti, Paola, Bruntraeger, Michaela B., Durham, Heather D., Brais, Bernard, Maltecca, Francesca, Gentil, Benoit J., Chapple, J. Paul
Publié dans Hum Mol Genet (2017)

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

par Mancini, Cecilia, Roncaglia, Paola, Brussino, Alessandro, Stevanin, Giovanni, Lo Buono, Nicola, Krmac, Helena, Maltecca, Francesca, Gazzano, Elena, Bartoletti Stella, Anna, Calvaruso, Maria Antonietta, Iommarini, Luisa, Cagnoli, Claudia, Forlani, Sylvie, Le Ber, Isabelle, Durr, Alexandra, Brice, Alexis, Ghigo, Dario, Casari, Giorgio, Porcelli, Anna Maria, Funaro, Ada, Gasparre, Giuseppe, Gustincich, Stefano, Brusco, Alfredo
Publié 2013